What is Van der Woude syndrome?

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Last updated: April 10, 2025 • View editorial policy

From the Research

Van der Woude syndrome is a rare genetic disorder that requires a multidisciplinary approach to management, with a focus on surgical repair of cleft lip and palate, speech therapy, and genetic counseling to improve quality of life and function. The condition is characterized by cleft lip and/or cleft palate, distinctive pits or mounds on the lower lip, and is caused by mutations in the IRF6 gene, inherited in an autosomal dominant pattern 1. Patients may also have hypodontia, syngnathia, and occasionally limb abnormalities.

Key Features and Management

  • Cleft lip and/or cleft palate repair is usually performed around 3-6 months and 9-18 months of age, respectively
  • Lip pits may be surgically removed for cosmetic reasons
  • Speech therapy is often needed to address articulation difficulties
  • Genetic counseling is recommended for affected individuals planning to have children
  • Early intervention is crucial for optimal outcomes, as proper management can significantly improve quality of life and function for those with this condition 2

Complications and Outcomes

  • Children with Van der Woude syndrome have an increased risk for wound complications after cleft repair compared to those with non-syndromic cleft lip/palate 1
  • Secondary palatal surgeries for velopharyngeal insufficiency may be necessary in some cases 2
  • Rare and multiple hypodontia may occur, requiring alveolar bone graft, orthodontics, and prosthesis to replace missing teeth 3

Importance of Early Intervention and Genetic Counseling

  • Early intervention and proper management can significantly improve quality of life and function for those with Van der Woude syndrome
  • Genetic counseling is essential for affected individuals planning to have children, as the condition has a 50% chance of being inherited by offspring 4

References

Research

Rare and Multiple Hypodontia in Van der Woude Syndrome: Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2023

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